ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)

dbSNP: rs121918735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059553 SCV000221859 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
DASA RCV000059553 SCV002526397 likely pathogenic Severe myoclonic epilepsy in infancy 2022-06-10 criteria provided, single submitter clinical testing The c.777C>A;p.(Ser259Arg) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 68673; PMID: 20431604; 30735520) - PS4.Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 30735520) - PS3_supporting. This variant is not present in population databases:rs121918735 , gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 20431604; 30735520)PM6. In summary, the currently available evidence indicates that the variant is Likely Pathogenic
UniProtKB/Swiss-Prot RCV000059553 SCV000091085 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678837 SCV000805026 pathogenic Seizure 2017-08-14 no assertion criteria provided clinical testing

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